KEGG   DISEASE: CaveolinopathiesHelp
H00567                      Disease                                

Caveolinopathies, including:
Limb-girdle muscular dystrophy (LGMD) 1C;
Rippling muscle disease (RMD);
Idiopathic hyperCKemia;
Distal myopathy with decreased caveolin 3;
Hypertrophic cardiomyopathy (HCM)
Caveolinopathies are a group of muscle diseases and can lead to a broad spectrum of clinical phenotypes. The same mutation could lead to heterogeneous clinical phenotypes and muscle histopathological changes. They are usually inherited in an autosomal dominant pattern. Recently, an autosomal recessive inheritance was considered. The clinical findings that may suggest the diagnosis of a caveolinopathy are: onset usually in the first two decades, progressive, proximal, symmetrical muscle weakness, positive Gowers sign, calf hypertrophy, myalgia, cramps, and/or stiffness after exercise, muscle hyperirritability, etc.
Musculoskeletal disease; Nervous system disease; Cardiovascular disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00567  Caveolinopathies
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H00567  Caveolinopathies
 9. Diseases of the circulatory system (I00-I99)
  I30-I52  Other forms of heart disease
   I42  Cardiomyopathy
    H00567  Caveolinopathies
BRITE hierarchy
Focal adhesion
CAV3 [HSA:859] [KO:K12959]
Other DBs
PMID:21496630 (description, gene)
Gazzerro E, Bonetto A, Minetti C
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.
Handb Clin Neurol 101:135-42 (2011)
PMID:18583131 (description, gene)
Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V
Caveolinopathy--new mutations and additional symptoms.
Neuromuscul Disord 18:572-8 (2008)
PMID:15580566 (description, gene)
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C
Molecular and muscle pathology in a series of caveolinopathy patients.
Hum Mutat 25:82-9 (2005)

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